deCODE You

Scientists at deCODE Genetics and academic collaborators from Iceland, the USA, The Netherlands and Spain today report the discovery of variants in the human genome that associate with levels of thyroid stimulating hormone and risk of thyroid cancer. The paper ‘Discovery of common variants associated with low TSH levels and thyroid cancer risk‘ is published today in the online edition of Nature Genetics.

Using data obtained by applying both Illumina whole-genome sequencing technology and Illumina SNP chip technology, deCODE’s scientists performed a genome wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. 22 SNPs with genomewide significance were discovered, of which one, rs965513 had previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic thyroid cancer cases and 40,013 controls. Variants suggestively associated with thyroid cancer were then genotyped in an additional 595 non-Icelandic cases and 2,603 controls.

After combining the results, three separate variants on chromosomes 2q35, 8p12 and 14q13.3 were shown to associate with risk of thyroid cancer, conferring an added risk of 30 – 100%, compared to the general population. These variants were also found to associate with low levels of TSH, a key regulator in the biology and endocrinology of the thyroid gland.

“This study underscores the important role that the genetics of diversity in normal physiologic function can play in understanding the risk of disease. To date, the at-risk alleles of all the variants that confer risk of thyroid cancer associate with decreased serum levels of TSH, suggesting that the primary disorder in non-medullary thyroid cancer is an endocrine one, characterized by decreased concentration of TSH,” said Kari Stefansson, deCODE’s CEO and senior author of the study.

Thyroid Cancer is a malignant thyroid neoplasm, which can be treated with radioactive iodine or surgical resection of the thyroid gland. The contribution of genetics to the risk of thyroid cancer is greater than to any other cancer. Thyroid cancer is classified into four main histology groups: papillary (PTC), follicular (FTC), medullary (MTC), and undifferentiated or anaplastic thyroid carcinomas. The great majority of malignant thyroid tumours are nonmedullary, either PTC (80–85%) or FTC (10–15%).

deCODE genetics today announced that it has entered into a research collaboration with Pfizer Inc., the objective of which is to discover sequence variants associated with specific clinical phenotypes related to Systemic Lupus Erythematosis by utilizing deCODE‘s expertise in gene discovery.

deCODE’s discovery capabilities combine its extensive population and genetic resources, including DNA samples and medical data, complete genealogical information, next generation sequencing technology, and deCODE’s proprietary bioinformatics and statistical capabilities. Over the next 18 months, deCODE and Pfizer will work together to analyse the genomes of patients to search for sequence variants that would be useful for understanding drug targets and discovering novel drug targets, that may ultimately lead to tools for patient stratification and companion diagnostics.

“This agreement is a part of deCODE’s ongoing strategy to unleash the value of human genetics,” said Dr. Kari Stefansson, founder and CEO of deCODE, “our research platform allows us to understand the genetic basis of disease and modifiers of clinical phenotypes in actual patient populations; by doing so, we can rapidly move from targets to patient stratification and from there to companion diagnostics.”

The research collaboration will utilize the expertise and capabilities of both deCODE and Pfizer: deCODE’s comprehensive population genetics resources and analytical expertise and Pfizer’s dedication to the application of genomic analysis to the discovery and development of drugs.

Scientists at deCODE Genetics and academic collaborators from Iceland, Norway, Denmark, the Netherlands and the USA today report the discovery of low frequency variants in the human genome that associate with risk of gout, a common inflammatory arthritis, and serum uric acid levels. The study was done in collaboration with Illumina Inc., and is published today in the online edition of Nature Genetics.

Using Illumina sequencing technology, deCODE scientists determined the sequences of the entire genomes of 457 Icelanders, and identified 16 million single nucleotide polymorphisms (SNPs). Through a combination of SNP genotyping and computational techniques utilizing the extensive Icelandic genealogy, they were able to propagate those 16 million variants into over 40,000 Icelanders, including over 1,200 patients with gout and over 22,000 individuals for whom serum uric acid measurements were available.

The researchers observed a sequence variant in a previously unidentified gout susceptibility gene located on chromosome 19 that has a large effect on serum uric acid levels and gout. The sequence variant is a mis-sense mutation that causes an increase in the level of uric acid by 0.04 mmol/L and a three-fold increase in the risk of gout. Close to 4% of individuals in the overall Icelandic population carry this variant, and ~0.2% of the individuals assessed by academic collaborators in Norway, Denmark, The Netherlands and the United States.

The variant encodes an amino acid change in ALDH16A1, a member of the aldehyde dehydrogenase (ALDH) superfamily, and could motivate further biological studies of this pathway. Other members of the ALDH superfamily have been associated with other clinical phenotypes including alcohol-induced flushing.

Also, at a previously reported locus on chromosome 1, the researchers discovered another novel low frequency variant associating with serum uric acid level and gout. The variant decreases the risk of gout by 50%, and the level of uric acid by 0.05 mmol/L. Approximately 3% of the Icelandic population carry this variant and 1.5% of the European subjects.

For both loci the effect on risk of gout is significantly higher among men than women, but the effect on serum uric acid levels is the same in both sexes.

“This study underscores the importance of whole genome sequencing of well-phenotyped populations. We are pleased that the clinical and genetic resource that deCODE has built enables us to make such discoveries,” said Kari Stefansson, deCODE’s CEO and senior author of the study.

“We are committed to turning discoveries such as this, as well as our recent findings in ovarian cancer and sick sinus syndrome, and our future discoveries, into real benefit for patients,” Dr. Stefansson continued.

Gout is a common inflammatory arthritis caused by urate crystal formation resulting from a high concentration of uric acid in the blood, which is in turn caused by an imbalance in the dietary intake of purines and in the synthesis an excretion of urate. The incidence of gout increases with age and is three times higher in men than in women.

Scientists at deCODE Genetics and academic collaborators from Iceland, The Netherlands, Spain and Finland today report the discovery of variants in the human genome that associate with  increased risk of invasive ovarian cancer, one of the deadliest forms of cancer in women.  The study was done in collaboration with Illumina Inc., and is published today in the online edition of Nature Genetics.

Using Illumina sequencing technology, deCODE scientists determined the sequences of the entire genomes of 457 Icelanders, and identified 16 million single nucleotide polymorphisms (SNPs). Through a combination of SNP genotyping and computational techniques utilizing the extensive Icelandic genealogy, they were able to propagate those 16 million variants into over 40,000 Icelanders, including over 600 patients with ovarian cancer.

The researchers observed a rare sequence variant in a gene named BRIP1 that confers more than eightfold increase in the risk of ovarian cancer in the Icelandic population.  BRIP1 plays an important role in maintaining the stability of the genome and interacting directly with the DNA repair protein encoded by the known breast cancer gene BRCA1.  Interestingly, the mutation also associates with increased risk of being diagnosed with cancer in general, and individuals carrying the variant live 3.6 years fewer on average.

The researchers also searched for mutations in the BRIP1 gene in ovarian cancer patients in other populations.  A rare variant in BRIP1 was found in a Spanish cohort of 144 patients and 896 controls; this mutation confers a significantly increased risk of not only ovarian cancer, but also breast cancer.  Finally, examination of  tumors from ovarian cancer patients that carry the mutation showed a loss of the healthy copy of the gene, further supporting the role of BRIP1 as a classical tumor suppressor.

“This study underscores the important contribution that the Icelandic population can make to the discovery of low frequency sequence variants with large effect.  The potential to do this has been clear since the critical role played by Iceland in the discovery of the BRCA2 gene.  Until now, however, the combination of sequencing technology and analytical techniques were insufficient to unleash the flood of discoveries that we and our collaborators are now making,” said Kari Stefansson, deCODE’s CEO and senior author of the study.

“Our objective is to translate our discoveries most rapidly into benefit for patients.  So, we are committed to working with our collaborators, as we did in this case, to identify the spectrum of mutations occuring in other populations.  This allows us to use the Icelandic resource as a unique discovery cohort, and then quickly elucidate the broader utility,” Dr. Stefansson added.

Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries.  Five-year relative survival rate is less than 45%, with the stage at diagnosis being the major prognostic factor.  Importantly, only 19% of ovarian cancer cases are diagnosed while the cancer is still localized and chances of cure are over 90%.  Hence, the discovery of genetic variants that increase the risk of ovarian cancer may enable the development of diagnostic tests to identify women at high risk for the disease.  Women at high risk can then be be offered frequent screening for early detection and treatment or preventive intervention.

Scientists at deCODE Genetics and academic collaborators from Iceland, The Netherlands, Spain, Denmark, Germany, Sweden, the USA, the UK and Romania today report the discovery of a variant in the sequence of the human genome associated with risk of developing basal cell carcinoma of the skin (BCC), as well as prostate cancer and glioma, the most serious form of brain cancer.  The study was done in collaboration with Illumina, Inc., and is published today in the online edition of Nature Genetics.

Using Illumina sequencing technology, deCODE scientists determined the sequences of the entire genomes of 457 Icelanders, and identified 16 million single nucleotide polymorphisms (SNPs). Through a combination of SNP genotyping and computational techniques utilizing the extensive Icelandic genealogy, they were able to propagate those 16 million variants into over 40,000 Icelanders for use in this study.

The researchers discovered a single letter variant located in TP53, a gene known to play a central role in tumor biology and for accumulating so called somatic mutations, during the development of cancer in patients.  Until now, however, individuals who are born with defective copies of the gene (germline variants) have been found extremely rarely, only in families with cancer predisposition syndromes, Li Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL). The variant found in the present study is an unusual type of mutation that appears to affect the way the gene’s messenger RNA is processed; the messenger RNA in patients with the mutant TP53 gene appears to lack proper termination and polyadenylation.

This is the first evidence of a germline variant in TP53 associated with cancer predisposition beyond LFS and LFL. While the mutations causing LFS and LFL syndromes are very rare (occuring 1:5,000 to 1:20,000 births), the variant described in this paper occurs in ~ 1 in 25 individuals in Iceland, and at comparable frequencies in US and UK populations.

“This mutation is one of a growing number of deCODE discoveries of relatively low frequency sequence variants with large effect,” said Kari Stefansson, deCODE’s CEO and senior author of the study.  “The discovery of such variants is made possible through the breadth and quality of the data that the Icelandic population provides.”

Dr. Stefansson emphasized, “We will, together with our collaborators, including Illumina, extend ourselves to turn this discovery into benefit for patients and those at risk of cancer.”

BCC is the most common cancer in people of European ancestry. Sun exposure is the primary risk factor for BCC, but genetic predisposition also plays a substantial role.   Until now, no mechanistic causal connection between cancers as diverse as BCC, prostate cancer, glioma, and colorectal adenoma was known.

The paper, “A Germline Variant in the TP53 Polyadenylation Signal Confers Cancer Susceptibility” is published online in Nature Genetics at www.nature.com/ng and will appear in an upcoming print edition of the journal.

The most detailed template yet of the different ways in which women and men, individuals and populations, are driving one of the main motors of evolution

Scientists from deCODE genetics today publish in Nature the highest resolution recombination map of the human genome yet developed. Recombination is the reshuffling of the genome that occurs in the formation of eggs and sperm: we inherit one version of each chromosome from each of our parents, and create novel blends of the two that we pass on to our offspring. This process is fundamental to generating human diversity, providing novel configurations of the genome that enable the species to adapt to ever-changing environments. The map is published and made freely available to the scientific community at www.nature.com, and at www.decode.com/addendum, where updates will be provided.

In 2002, deCODE created a 6000-marker framework recombination map that enabled the correct assembly of the first sequence of the human genome. The map published today, which is put into the public domain as deCODE and other institutions begin to sequence and analyze large numbers of whole genomes, was constructed using 300,000 single-letter markers, or SNPs. It incorporates data from more than 15,000 parent-offspring pairs participating in deCODE’s gene discovery work in Iceland to show in high resolution where recombinations tend to take place. Among the findings are that some 15% of male and female recombination hotspots are unique to each sex. Moreover, women tend to contribute more to generating new combinations of genes, while men are doing more to create new versions of the genes themselves. So too, new variations in the PRDM9 gene have been identified that correlate with differences between individuals in how evenly recombinations are spread across the genome, and with different distributions of recombinations between people of African and European origin.

“This map is to me a thing of beauty. We are looking in quite high definition at the ingenious processes driving the generation of human diversity. From our previous work we have seen in basic terms that recombination is different between women and men, and between individuals and families. There are genetic factors that increase recombination in one sex while decreasing it in the other; women recombine at 1.6 times the rate of men; and women who recombine more tend to have more children. So we knew that nature is putting a premium on the generation of diversity. Here we see in detail the variations involved in generating variation, from women and men playing complementary roles in generating new versions and new configurations of genes, to differences in versions of PRDM9 between Africans and Europeans,” said Kari Stefansson, deCODE CEO and senior author on the paper.

The construction of this map was made possible by the unique breadth and comprehensiveness of deCODE’s population genetics resources in Iceland, and by new methods developed by deCODE statisticians for determining the parental origins of genetic markers. Because this new map is built by looking directly at real recombination events in large numbers of real families, it provides the first detailed picture of recombination differences between the sexes and individuals. By contrast, other recent recombination maps have been constructed using data on linkage disequilibrium – the frequency with which strings of genetic markers tend to be inherited together – in large numbers of unrelated people. The virtue of the latter maps is that they provide an historical catalogue of recombination as our species has evolved; the new deCODE map provides the complementary view of what this process looks like in a real population at a specific point in time.

Independent of obesity itself, WHR is a key indicator of risk of diabetes, heart disease and mortality, and appears to be regulated differently in women and men.

Reykjavik, ICELAND, 11 October 2010 – In two of the largest metastudies of their kind to date, scientists from the GIANT consortium, including deCODE as well as hundreds of academic institutions on three continents, today report the discovery of eighteen new regions of the human genome contributing to obesity and thirteen new regions influencing waist-hip ratio (WHR). The studies bring together data on body mass index (BMI, a measure of obesity), WHR (a measure of body fat distribution), and detailed genotypic information, from more than a quarter of a million participants from Europe, North America and Australia. The findings demonstrate the effectiveness of collaborations such as GIANT for powering studies large enough to detect lower-impact genetic factors for common traits and diseases.

“To my mind, perhaps the most noteworthy aspect of these findings is that it has indeed been possible to find so many loci for WHR that are independent of BMI. Most of the BMI loci appear to affect central and neuronal processes regulating satiety and appetite. By contrast, the WHR loci appear to be involved in the development and distribution of adipose tissue. Thus, the genetics seems to be pointing us to biological distinctions between two components of the regulation of weight – how much we eat, and how and where calories are stored as fat. Also intriguing, many of the WHR loci show a significantly greater impact in women than in men, a distinction that is stronger here than in any other disease or trait we have looked at. From a health perspective, the distinctions drawn here between BMI and WHR are steps towards better understanding the role of these two traits as risk factors for a range of diseases,” said Kari Stefansson, deCODE CEO and a senior author on the BMI study.

The papers, “Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index,” and “Meta-analysis identifies 13 novel loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution,” are published online in Nature Genetics at www.nature.com/ng and will appear in an upcoming print edition of the journal.

Scientists at deCODE genetics and academic colleagues from Iceland, China, Sweden, the UK and Australia today report the discovery of the most important single-letter variation (SNP) in the sequence of the human genome yet associated with risk of primary open-angle glaucoma. This is the most common form of glaucoma and a major cause of blindness worldwide.

The SNP on chromosome 7q31 is common among Europeans, with approximately 6% of people of European ancestry carrying two copies of the at-risk version, putting them at roughly 60% greater risk of developing the disease than those who carry none. But among Chinese, the impact of the SNP is markedy different. In study groups from Hong Kong and Shantou, the at-risk version of the SNP is shown to be carried by less than 1% the population, but each copy carried confers a more than five-fold increase in risk. The SNP is near the genes encoding caveolin 1 and 2, membrane proteins that are expressed in the meshwork that drains fluid from the eye, a process that if disturbed can increase pressure on the optic nerve and lead to glaucoma.

“The key to reducing the personal and public health impact of glaucoma is early diagnosis and treatment to slow the loss of sight. Discoveries such as today’s, which follows on our previous landmark findings in exfoliation glaucoma, are important because we can fold them directly into tests to target screening and to detect and treat more disease earlier. Moreover, among Chinese this latest SNP alone can define a small fraction of the population that should be very carefully screened. This underscores the value of being able to systematically analyze the impact of genetic risk factors across continental ancestries. Not only are these markers medically useful, they also tell us a bit about evolution and the spread of humanity across the globe,” said Kari Stefansson, deCODE’s Executive Chairman and President of Research and senior author of the study.

The authors would like to thank the more than 40,000 people who participated in this study, both glaucoma patients and control subjects. The paper, “Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma,” is published online in Nature Genetics at www.nature.com/ng and will appear in an upcoming print edition of the journal.

Primary open-angle glaucoma is a disease in which the optic nerve becomes damaged, leading to a progressive loss of sight. It affects tens of millions of people worldwide, mostly those over the age of 50. Incidence increases with age and varies between populations. Other known risk factors include high blood pressure and diabetes. Current treatments include eye drops that reduce pressure on the optic nerve, as well as surgery.

deCODE genetics and ARUP Laboratories today announced a partnership  through which ARUP will offer deCODE’s DNA-based prostate cancer risk assessment test  to its clients nationwide.

Under the terms of the non-exclusive agreement, ARUP will integrate deCODE ProstateCancer™ into the portfolio of tests it offers to leading academic medical centers, public and private healthcare providers, and major hospitals across the United States. ARUP’s clients will order the test, submit samples and receive results through ARUP, with deCODE conducting the genetic analysis in its CAP and CLIA-certified laboratory.

deCODE ProstateCancer measures 25 common single-letter variations, or SNPs, in the sequence of the human genome that are associated with the risk of prostate cancer. These SNPs were validated in tens of thousands of patients and controls in many populations. The risk conferred by these common SNPs is independent of family history, and does not correlate with benign prostatic hyperplasia (a non-cancerous enlargement of the prostate). The test can identify approximately 15% of men in the general population who are at double the average risk of prostate cancer as well as 5% who have triple the average risk. This test is complementary to standard clinical risk screening, including PSA, providing additional information for a more complete and personalized picture of individual risk to help doctors manage effective screening and early-detection strategies.

“The management of patients with elevated or borderline PSA continues to be a challenge, and having the additional knowledge of a patient’s genetic risk for prostate cancer can be very useful. We are pleased to be working with deCODE, who has developed this test through a number of large clinical studies and continues to demonstrate excellent scientific productivity in the area of human genetics,” said Edward Ashwood, MD, President and CEO of ARUP Laboratories.

“We are excited to be partnering with ARUP to increase the availability of our prostate cancer test to physicians and their patients. The quality and breadth of their services, and their range of customers across the healthcare spectrum, make them an excellent partner. Our test helps to meet the need for improved risk stratification and patient outcomes, and we believe that this alliance will make these benefits available to a greater number of patients,” said Kari Stefansson, Executive Chairman and President of Research at deCODE.

ARUP Laboratories plans to begin offering deCODE’s prostate cancer risk test (ARUP test code 2003326) to clients in the fall of 2010.

Cigarette smoking is a major cause of illness and death worldwide. But it is a complex behavior, and how much people smoke, how hard they find it to quit, and the impact of long-term smoking on health varies greatly among individuals. A substantial portion of this variability is genetic. Two years ago, deCODE discovered the first common, single-letter variation (SNP) in the sequence of the human genome, on chromosome 15q25, associated with nicotine addiction and risk of lung cancer.

Today, deCODE scientists and academic colleagues from 23 institutions in a dozen countries build on this work with the discovery of common SNPs on chromosomes 8p11 and 19q13 that among smokers increase the number of cigarettes smoked per day (CPD), a measure of nicotine addiction, and increase risk of lung cancer. Read the rest of this entry »

We are very happy to announce today that deCODEme has been awarded the presitigious HONcode certification. This is the oldest and best known system for certifying that information on medical websites is ethically and credibly presented.

HONcode stands for the same principles we do. It conducts a rigorous and dynamic evaluation of how information is presented to users – involving individuals, physicians, and the provider of the service. The goal is to ensure that medically relevant information is presented in a way that enables users to understand what the information is useful for as well as the science upon which it is based. deCODEme provides this information to individual subscribers and, through the deCODEHealth interface, it also enables individuals to share their profile with their doctor and to integrate deCODEme as a component of their personal healthcare strategy.

As we have always said, and as our users know, what sets deCODEme and deCODEHealth apart is the scientific leadership of the team behind the service. These are online services, but we are not a dot-com company. Our services are developed and offered by the same people who over more than a decade have discovered most of the important genetic risk factors we test for. This is our commitment to our subscribers, and to the medical professionals and healthcare systems that are leading the way in employing genetics to deliver the best healthcare for their patients.

So this certification is as much about you as it is about us – congratulations!

The deCODEme Team

Pancreatic cancer has been added to the deCODEme Complete Scan. Pancreatic cancer is a particularly difficult form of cancer. It is virtually asymptomatic in its earliest stages. The cancer typically spreads rapidly and aggressively into surrounding tissue and organs, it is resistant to standard chemotherapy and has a strong tendency to recur. These characteristics make pancreatic cancer one of the most challenging cancers to treat unless caught early enough, and provide a grim prognosis for many diagnosed with the disease.

Currently there is no screening test available for this cancer, but genetic variants have been identified that are associated with increased risk of developing non-endocrine pancreatic cancer, the most common type of pancreatic cancer.  The deCODEme Complete Scan recently added non-endocrine pancreatic cancer to its genetic risk assessment profile.

deCODE genetics ehf today emerged as a newly financed, private company focused on advancing the science of human genetics and its application to products and services that improve human health. The new company will be building on the scientific leadership in genetics it developed over more than a decade as a subsidiary of deCODE genetics, Inc. deCODE ehf was this week purchased from its former parent company by Saga Investments LLC, a consortium that includes Polaris Ventures and ARCH Venture Partners, two leading life science investors. deCODE will continue all of its operations and product lines in this field, including its deCODE diagnostics disease risk tests; deCODEme™ personal genome scans; and contract service offerings including genotyping, sequencing and data analysis. Going forward, deCODE  will concentrate on translating its science into medically and commercially important products and services.  The company will be led by a two-man executive committee comprised of Earl “Duke” Collier, previously an executive vice president at Genzyme Corp.,who will serve as CEO, and Kari Stefansson, who will serve as executive chairman and president of research.

Read the rest of this entry »

We have just made some updates to the deCODEme ancestry service. Now you have more power and flexibility when you compare your genome with that of friends or individuals from different populations around the world.

Your genome can be viewed as a mosaic or tapestry made up of fragments of chromosomes from your ancestors. Fragments of chromosomes inherited from very recent ancestors, say grandparents, are expected to be large – typically tens of millions of nucleotides in size. As ancestors become more ancient, then the size of the chromosome fragments inherited from them become smaller – down to a few thousand or hundred nucleotides for ancestors born thousands of years ago.

Our new and improved genome comparison tool enables to you compare your genome with another individual in order to determine which chromosome fragments you share and to see how much of your genome is shared. The fascinating thing about this analysis is that each shared fragment represents a common ancestor. The number of shared fragments and their size reflects the number of common ancestors and how far back in time they are found. In other words, you can see how closely you are related.

Read the rest of this entry »

Scientists at deCODE genetics today report the discovery of seven novel and common single-letter variations in the sequence of the human genome (SNPs) that are involved in modulating the electrical impulses that govern the working of the heart. Two of these SNPs, which correlate with electrocardiogram (ECG or EKG) measurements that are used in the clinical evaluation of heart health and activity, were then shown to confer increased risk of atrial fibrillation (AF), one of the most common causes of irregular heartbeat and a leading cause of stroke. The paper, “Several common variants modulate heart rate, PR interval and QRS duration,” is published online in Nature Genetics and will appear in an upcoming print addition of the journal.

Read the rest of this entry »

Season’s Greetings And Best Wishes For The New Year from deCODE.

We at deCODEme just wanted to let you know that we have added a Forum where you can discuss genetics, ancestry and health. Our experts are looking forward to your questions and comments so we hope you take advantage of this new feature.

We are constantly working on making deCODEme more valuable and informative and we appreciate your continued interest.

We hope you have a pleasant and festive holiday.

The deCODEme Team

Hypertension genetic risk now a part of the deCODEme Complete Scan

Hypertension, commonly referred to as high blood pressure, has been added to the deCODEme Complete Scan. Hypertension is defined as blood pressure of 140/90 mmHg or above on three consecutive measurements at least six hours apart. Blood pressure this high is a risk factor for many diseases. Over time, the increased workload on the heart weakens it and contributes to atherosclerosis (the thickening of the arteries due to fat and cholesterol depositions), thereby increasing the risk of coronary heart disease and stroke, which are among the leading causes of death in the United States. High blood pressure can also lead to other conditions, such as heart failure, kidney disease, and blindness. High blood pressure is especially dangerous because it often has no obvious warning signs or symptoms and can therefore remain undiagnosed and untreated long enough to cause damage. High blood pressure is common, but too often goes undetected. An estimated 1 billion people worldwide have hypertension, and this number is expected to increase to 1.56 billion people by the year 2025. This translates to about 1 in 4 adults being afflicted with hypertension worldwide. Currently, about 1 in 3 Americans are thought to have hypertension, and a third of them probably do not know it.

deCODE scientists have discovered a single SNP that confers increased risk if inherited from the father, but is protective if inherited from the mother

Scientists at deCODE genetics, Inc. publish in the journal Nature the discovery of a version of a common single-letter variant in the sequence of the human genome (SNP) with a major impact on susceptibility to type 2 diabetes (T2D). The impact of the T2D variant is not only large, but unusual: if an individual inherits it from their father, the variant increases risk of T2D by more than 30% compared to those who inherit the non T2D-linked version; if inherited maternally, the variant  lowers risk by more than 10% compared to the non T2D-linked version. Nearly one quarter of those studied have the highest risk combination of the versions of this SNP, putting them at a roughly 50% greater lifetime risk of T2D than the quarter with the protective combination. This is the second largest effect of any genetic variant for T2D apart from SNPs in TCF7L2, discovered by deCODE in 2006.

“We could make this discovery beacause we are in the unique position of being able to distinguish what is inherited from the mother from what is inherited from the father. This we can do because of the large amount of data we have assembled on the Icelandic population. Read the rest of this entry »

Systemic Lupus Erythematosus is a complex disease and often difficult to diagnose – knowing your genetic risk may help your doctor rule out or confirm Lupus.

Systemic Lupus Erythematosus has been added to the deCODEme Complete Scan. Lupus is an autoimmune disease characterized by intermittent flares of inflammation in various tissues of the body. Autoimmune diseases occur when the body’s tissues are attacked by its own immune system. Normally, people produce antibodies that attach themselves to infectious agents when they enter the body and mark them for destruction by the immune system. People who have Lupus produce abnormal antibodies that target tissues within their own body. Lupus can therefore cause inflammation and tissue damage in various organs such as the skin, heart, lungs, kidneys, joints, and even the nervous system. If you already have a deCODEme Complete Scan you can now log in to see your genetic risk for Systemic Lupus Erythematosus. If you want to purchase a genetic test visit the deCODEme store.

As a follower of deCodeYou, we wanted to let you know about some important developments in the company and how we believe these will underpin our ability to continue to keep you in the forefront of understanding what the latest advances in genetics mean for you and your health.

For the past several months, deCODE has been working on restructuring its operations. As a result of these efforts, deCODE has entered into and filed concurrently with its Chapter 11 petition announced today an asset purchase agreement under which it would sell its Iceland-based human genetics operation to new owners. This is the subsidiary that conducts our human genetics research, manages our population genetics resources and provides our personal genome scans and DNA-based risk assessment tests. This agreement is subject to a number of contingencies, including a competitive bidding procedure and court approval in accordance with bankruptcy law. It also provides interim financing to enable us to continue operations during the Chapter 11 process, and we have asked the court for the customary authority to continue to provide products and services to our customers without interruption during the bankruptcy process.

Thus you should expect to continue to hear from here on all the latest in human genetics and its relevance to health and healthcare. You can read our press release here.

With best regards,

The deCODEyou team

Dr. Kari Stefansson receives Jahre Award - Photo by Francesco Saggio, University of Oslo

In a ceremony held this evening in Oslo, deCODE founder and CEO Kari Stefansson received the Anders Jahre Award for Medical Research. One of the most prestigious medical prizes in the Nordic countries, it was awarded in recognition of Dr. Stefansson’s leading contribution to increasing understanding of the genetic factors involved in common, complex diseases. The selection committee noted that this work has been driven by deCODE’s population approach, and by the participation of a large proportion of the Icelandic population in the company’s gene discovery programs.

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Knowing your risk for Chronic Kidney Disease through a deCODEme DNA scan can increase your awareness and empower you to take preventive steps to protect your kidneys.

Chronic Kidney Disease has been added to the deCODEme Complete Scan. Chronic Kidney Disease involves the gradual loss of kidney function over time that can ultimately lead to kidney failure. It typically develops as a result of other common diseases, primarily diabetes, high blood pressure and obesity, but not everyone has the same risk of developing Chronic Kidney Disease. Research suggests that this disease has a strong familial component.

In the U.S., an estimated 26 million adults have Chronic Kidney Disease, but most of them do not know it. The kidneys have such a remarkable ability to compensate for problems in their function, that there may be no symptoms of Chronic Kidney Disease until it has progressed considerably.

Recently, scientists identified a common genetic variant (rs4293393-T), associated with increased risk of Chronic Kidney Disease. deCODEme has incorporated these results into the complete genetic scan, which analyzes your DNA and provides you with a personalized risk assessment for Chronic Kidney Disease and about many other diseases, including diabetes, obesity and kidney stones.

Chronic Kidney Disease is a growing problem in the U.S. and in other western parts of the world, Knowing your risk for Chronic Kidney Disease can increase your awareness and empower you to take preventive steps to protect your kidneys.

deCODEme Complete Scan now includes Testicular Cancer

At deCODEme, we believe that when it comes to planning your preventive health efforts, your genetic profile is the place to start. This month we have added two new diseases, both of which are highly curable if caught early.

If you are a deCODEme customer who has bought our Complete Scan, your account now includes a personalized genetic risk assessment for:

Testicular Cancer of males, and Ovarian Cancer of females.

Our scientists have also added more genetic details to the risk assessment for Prostate Cancer, which now includes a total of 25 genetic risk variants for customers of the Complete Scan.

deCODEme DNA test now includes Ovarian Cancer

Ovarian cancer is the eighth most common cancer in women. Based on ovarian cancer statistics in the U.S., it is expected that 1.4% of women born today will be diagnosed with cancer of the ovary at some point during their lifetime. This represents the lifetime risk of ovarian cancer and means that 1 out of every 71 women will be diagnosed with this disease during their lifetime. deCODEme Complete Scan now includes risk calculation for Ovarian Cancer.

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deCODEme Prostate Cancer

Last night we announced our discovery of four more SNPs linked to increased risk of prostate cancer. At the same time, academic collagues in the US and UK have also found more SNPs. (See article in TIMES ONLINE) All of the well-validated new risk variants will be incorporated into your deCODEme profile in the days ahead.

In the same study we published yesterday, we also conducted an analysis of all well-validated genetic risk factors discovered to date to establish what percentage of men would be at a significantly higher risk than average using these markers. Based upon our ability to swiftly conduct a population-based analysis in Iceland, this analysis demonstrates that about 4% of men are at more than double average risk based upon these risk factors, while just over 1% are at more than 2.5-times average risk.
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deCODEme provides personalized access to some of the first genetic variants recently linked to the most common type of brain cancer - Glioma

There are various types of brain cancer. Brain cancer can be primary, when it starts from cells in the brain, or secondary, when the cancer starts in another part of the body (for example in the lung or breast) and spreads to the brain through the bloodstream (that is through metastasis). Brain tumors can also be either benign (non-cancerous) or malignant (with cancer cells that multiply uncontrollably).

A glioma is a malignant primary brain cancer that originates from so-called glial cells found within the brain. There are several different types of gliomas determined by the type of glial cell that gives rise to the tumor. Although gliomas are rare, they are the most common type of primary malignant brain tumor in adults. They account for up to 80% of all brain cancer cases, with around 21,000 individuals diagnosed every year in the USA.

You may have heard about glioma in the news recently as this was the type of malignant brain cancer that recently claimed Senator Edward M. Kennedy‘s life at age 77. The causes of gliomas are largely unknown. However, scientists have long suspected that genes play a role, making some individuals more likely than others to develop brain cancer. Now some of these genes have been found. A study published in Nature Genetics in July, 2009, reports on the identification of the first common genetic variants known to contribute to an increased risk of developing this type of brain cancer. The deCODEme team has reviewed these findings and added them to the deCODEme Genetic Scan . On the basis of this newly published knowledge, we can now provide customers of European descent with a personalized interpretation of their genetic risk for developing a glioma-type brain cancer.

deCODE Discovers Second Common Genetic Risk Factor for Atrial Fibrillation and Stroke. Will be integrated into deCODE AF™ DNA-based risk assessment test, and into the deCODEme™ and deCODEme Cardio™ scans.

Scientists at deCODE genetics and colleagues from Europe and the United States today report the discovery of a common single-letter variant in the sequence of the human genome (SNP) conferring increased risk of atrial fibrillation (AF) and stroke. The findings will be integrated directly into the deCODE AF™ reference laboratory test for gauging individual risk of AF and stroke and helping to identify stroke patients who may benefit from enhanced monitoring for AF. The study is published online today in Nature Genetics.
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It’s Not Just the Sun: deCODE Discovers Sequence Variants Affecting Susceptibility to Skin Cancer.

Scientists at deCODE genetics and academic colleagues from Europe and the United States today present in the journal Nature Genetics the discovery of common genetic risk factors for basal cell carcinoma (BCC) that affect people with fair and dark complexions alike. deCODE had previously discovered five common single-letter variants in the sequence of the human genome (SNPs) linked to risk of BCC, the most common cancer in people of European descent. However, most of these earlier findings were also correlated with fair skin, well known to accompany vulnerability to the damaging effects of ultraviolet radiation in sunlight. By contrast, three of the SNPs presented today do not correlate with light pigmentation…
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deCODE Genotyping Laboratory Receives College of American Pathologists Accreditation

Underscores quality of deCODE’s laboratory and tests, fulfilling key federal and state certification requirements and broadening marketing channels

deCODE genetics CLIA-registered DNA isolation and genotyping laboratory, which processes the company’s deCODEme™ personal genome scans and risk assessment diagnostic tests for several common diseases, has been accredited by the American College of Pathologists (CAP) following a recent inspection. The U.S. Centers for Medicare and Medicaid Services (CMS) has granted the CAP Laboratory Accreditation Program deeming authority, and its accreditations can also be used to meet many state certification requirements.

“We believe that testing for genetic risk factors for common diseases is going to play a central role in refocusing our healthcare system on prevention and early intervention. deCODE has led the way in discovering validated genetic risk factors for diseases with a major impact on public health, and in bringing to market products that put this knowledge in the hands of individuals and their doctors. Quality – in our world-leading science and in-house genotyping and data analysis – sets us apart from our competition in the field of personal genomics. CAP certification serves to emphasize this advantage and will enable us to provide our products to an ever wider public,” said Kari Stefansson, CEO of deCODE.
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